Incidental Mutation 'R4606:Mcc'
| ID |
346049 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcc
|
| Ensembl Gene |
ENSMUSG00000071856 |
| Gene Name |
mutated in colorectal cancers |
| Synonyms |
D18Ertd451e |
| MMRRC Submission |
041817-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4606 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
44558127-44945249 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 44601488 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 614
(E614K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087318
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089874]
[ENSMUST00000164666]
|
| AlphaFold |
E9PWI3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089874
AA Change: E614K
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000087318
Gene: ENSMUSG00000071856
AA Change: E614K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
23 |
N/A |
INTRINSIC |
|
EFh
|
24 |
52 |
1.36e-3 |
SMART |
|
EFh
|
57 |
85 |
7.36e0 |
SMART |
|
coiled coil region
|
196 |
308 |
N/A |
INTRINSIC |
|
coiled coil region
|
395 |
466 |
N/A |
INTRINSIC |
|
low complexity region
|
488 |
493 |
N/A |
INTRINSIC |
|
low complexity region
|
512 |
517 |
N/A |
INTRINSIC |
|
low complexity region
|
523 |
537 |
N/A |
INTRINSIC |
|
Pfam:MCC-bdg_PDZ
|
577 |
641 |
2.6e-32 |
PFAM |
|
low complexity region
|
715 |
731 |
N/A |
INTRINSIC |
|
coiled coil region
|
738 |
834 |
N/A |
INTRINSIC |
|
low complexity region
|
853 |
863 |
N/A |
INTRINSIC |
|
Pfam:MCC-bdg_PDZ
|
906 |
972 |
1.1e-21 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164666
AA Change: E439K
PolyPhen 2
Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000128032
Gene: ENSMUSG00000071856
AA Change: E439K
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
21 |
133 |
N/A |
INTRINSIC |
|
Pfam:MCC-bdg_PDZ
|
233 |
289 |
1.2e-14 |
PFAM |
|
low complexity region
|
313 |
318 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
348 |
362 |
N/A |
INTRINSIC |
|
Pfam:MCC-bdg_PDZ
|
401 |
467 |
3.8e-32 |
PFAM |
|
low complexity region
|
540 |
556 |
N/A |
INTRINSIC |
|
coiled coil region
|
563 |
659 |
N/A |
INTRINSIC |
|
low complexity region
|
678 |
688 |
N/A |
INTRINSIC |
|
Pfam:MCC-bdg_PDZ
|
730 |
798 |
1.3e-27 |
PFAM |
|
| Meta Mutation Damage Score |
0.7029 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
96% (69/72) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a candidate colorectal tumor suppressor gene that is thought to negatively regulate cell cycle progression. The orthologous gene in the mouse expresses a phosphoprotein associated with the plasma membrane and membrane organelles, and overexpression of the mouse protein inhibits entry into S phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for hypomorphic or null mutations are viable and fertile with no gross abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(29) : Targeted(2) Gene trapped(27)
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700011L22Rik |
A |
T |
8: 79,937,374 (GRCm39) |
W178R |
probably benign |
Het |
| Abcb5 |
T |
C |
12: 118,896,345 (GRCm39) |
|
probably null |
Het |
| Akr1b1 |
C |
A |
6: 34,283,599 (GRCm39) |
|
probably benign |
Het |
| Arid1a |
A |
G |
4: 133,414,634 (GRCm39) |
F1199S |
unknown |
Het |
| Atp4b |
A |
G |
8: 13,439,998 (GRCm39) |
F116S |
probably damaging |
Het |
| Atp6v1b1 |
T |
C |
6: 83,729,443 (GRCm39) |
S127P |
probably damaging |
Het |
| Blk |
C |
T |
14: 63,611,652 (GRCm39) |
V428I |
probably benign |
Het |
| Ccser1 |
T |
C |
6: 61,288,568 (GRCm39) |
S244P |
probably damaging |
Het |
| Ceacam1 |
T |
A |
7: 25,173,951 (GRCm39) |
I235F |
probably damaging |
Het |
| Cyp2g1 |
T |
A |
7: 26,513,579 (GRCm39) |
Y173N |
possibly damaging |
Het |
| Ddr2 |
T |
A |
1: 169,829,421 (GRCm39) |
I278F |
probably benign |
Het |
| Degs1 |
T |
C |
1: 182,104,388 (GRCm39) |
D299G |
probably damaging |
Het |
| Dip2b |
G |
A |
15: 100,113,210 (GRCm39) |
V1542I |
possibly damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,095,248 (GRCm39) |
S2942R |
probably damaging |
Het |
| Dpf1 |
T |
A |
7: 29,016,015 (GRCm39) |
|
probably benign |
Het |
| Ephb6 |
A |
G |
6: 41,593,508 (GRCm39) |
Y518C |
probably benign |
Het |
| Eps15l1 |
A |
T |
8: 73,127,760 (GRCm39) |
F606I |
possibly damaging |
Het |
| Extl1 |
A |
G |
4: 134,098,690 (GRCm39) |
S114P |
probably damaging |
Het |
| Extl1 |
A |
C |
4: 134,098,691 (GRCm39) |
D113E |
probably benign |
Het |
| Fat1 |
T |
C |
8: 45,403,720 (GRCm39) |
V157A |
possibly damaging |
Het |
| Fcho1 |
A |
T |
8: 72,165,124 (GRCm39) |
D444E |
probably benign |
Het |
| Fgd3 |
T |
A |
13: 49,450,036 (GRCm39) |
D71V |
probably damaging |
Het |
| Fgd5 |
T |
A |
6: 91,965,190 (GRCm39) |
D316E |
possibly damaging |
Het |
| Gys2 |
A |
T |
6: 142,400,210 (GRCm39) |
F334I |
possibly damaging |
Het |
| Ik |
G |
T |
18: 36,886,608 (GRCm39) |
R360L |
possibly damaging |
Het |
| Kazn |
A |
C |
4: 141,845,599 (GRCm39) |
|
probably null |
Het |
| Kmt2d |
A |
T |
15: 98,737,597 (GRCm39) |
|
probably benign |
Het |
| Krr1 |
T |
C |
10: 111,811,582 (GRCm39) |
|
probably benign |
Het |
| Krt87 |
C |
T |
15: 101,384,930 (GRCm39) |
E389K |
probably benign |
Het |
| Lrrc4c |
T |
C |
2: 97,460,658 (GRCm39) |
V428A |
probably benign |
Het |
| Lvrn |
C |
A |
18: 46,997,832 (GRCm39) |
T260K |
possibly damaging |
Het |
| Msrb3 |
A |
T |
10: 120,685,902 (GRCm39) |
V81D |
probably damaging |
Het |
| Muc19 |
C |
T |
15: 91,832,268 (GRCm39) |
|
noncoding transcript |
Het |
| Myadm |
T |
A |
7: 3,345,916 (GRCm39) |
L226* |
probably null |
Het |
| Myof |
C |
T |
19: 37,955,547 (GRCm39) |
V526M |
probably damaging |
Het |
| Nckap5l |
A |
G |
15: 99,327,204 (GRCm39) |
|
probably benign |
Het |
| Or1r1 |
A |
G |
11: 73,874,718 (GRCm39) |
S239P |
probably damaging |
Het |
| Or4b1 |
G |
T |
2: 89,979,160 (GRCm39) |
|
probably benign |
Het |
| Or4c35 |
C |
A |
2: 89,808,350 (GRCm39) |
A76D |
possibly damaging |
Het |
| Or9g10 |
T |
A |
2: 85,584,284 (GRCm39) |
|
probably benign |
Het |
| Pars2 |
T |
C |
4: 106,511,247 (GRCm39) |
V307A |
probably benign |
Het |
| Pcdhb1 |
T |
G |
18: 37,398,581 (GRCm39) |
Y177* |
probably null |
Het |
| Pcdhb4 |
T |
A |
18: 37,441,705 (GRCm39) |
D338E |
probably damaging |
Het |
| Pik3r2 |
G |
A |
8: 71,224,780 (GRCm39) |
R199* |
probably null |
Het |
| Pla2g4f |
C |
T |
2: 120,144,467 (GRCm39) |
R24Q |
probably benign |
Het |
| Pnma2 |
T |
C |
14: 67,153,681 (GRCm39) |
I35T |
probably benign |
Het |
| Podn |
C |
A |
4: 107,875,064 (GRCm39) |
A568S |
probably benign |
Het |
| Pou3f1 |
A |
T |
4: 124,552,629 (GRCm39) |
E377V |
probably damaging |
Het |
| Ppfia1 |
T |
C |
7: 144,038,929 (GRCm39) |
D494G |
probably damaging |
Het |
| Pramel34 |
A |
T |
5: 93,784,461 (GRCm39) |
D137E |
probably damaging |
Het |
| Ptpn9 |
A |
T |
9: 56,929,495 (GRCm39) |
T71S |
possibly damaging |
Het |
| Ptprz1 |
C |
T |
6: 23,001,486 (GRCm39) |
P1192L |
possibly damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rnf217 |
T |
A |
10: 31,393,472 (GRCm39) |
K370* |
probably null |
Het |
| Rpap2 |
G |
A |
5: 107,749,661 (GRCm39) |
V62I |
possibly damaging |
Het |
| Scaper |
A |
T |
9: 55,563,187 (GRCm39) |
|
probably null |
Het |
| Sos2 |
T |
C |
12: 69,661,380 (GRCm39) |
|
probably benign |
Het |
| Sptbn5 |
C |
T |
2: 119,897,927 (GRCm39) |
|
probably null |
Het |
| Sumo1 |
A |
G |
1: 59,683,668 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
C |
A |
12: 76,036,027 (GRCm39) |
N3771K |
probably damaging |
Het |
| Tbx18 |
T |
C |
9: 87,612,822 (GRCm39) |
I26V |
possibly damaging |
Het |
| Trpm3 |
T |
A |
19: 22,955,988 (GRCm39) |
M1140K |
probably benign |
Het |
| Usp29 |
G |
A |
7: 6,966,356 (GRCm39) |
|
probably null |
Het |
| Wdr7 |
C |
T |
18: 63,913,016 (GRCm39) |
Q946* |
probably null |
Het |
| Ythdf1 |
T |
C |
2: 180,553,975 (GRCm39) |
D46G |
probably damaging |
Het |
| Zfp217 |
T |
C |
2: 169,961,670 (GRCm39) |
N219S |
possibly damaging |
Het |
| Zkscan3 |
A |
G |
13: 21,577,953 (GRCm39) |
I256T |
probably benign |
Het |
|
| Other mutations in Mcc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00489:Mcc
|
APN |
18 |
44,582,283 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL00981:Mcc
|
APN |
18 |
44,582,416 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00985:Mcc
|
APN |
18 |
44,624,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01674:Mcc
|
APN |
18 |
44,624,223 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL01862:Mcc
|
APN |
18 |
44,892,363 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01935:Mcc
|
APN |
18 |
44,652,583 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02168:Mcc
|
APN |
18 |
44,582,366 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02449:Mcc
|
APN |
18 |
44,593,025 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02613:Mcc
|
APN |
18 |
44,563,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02709:Mcc
|
APN |
18 |
44,578,877 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0009:Mcc
|
UTSW |
18 |
44,579,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0009:Mcc
|
UTSW |
18 |
44,579,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0021:Mcc
|
UTSW |
18 |
44,652,583 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R0022:Mcc
|
UTSW |
18 |
44,652,583 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R0062:Mcc
|
UTSW |
18 |
44,652,583 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R0062:Mcc
|
UTSW |
18 |
44,652,583 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R0063:Mcc
|
UTSW |
18 |
44,652,583 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R0064:Mcc
|
UTSW |
18 |
44,652,583 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R0217:Mcc
|
UTSW |
18 |
44,652,583 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R0218:Mcc
|
UTSW |
18 |
44,652,583 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R0243:Mcc
|
UTSW |
18 |
44,892,366 (GRCm39) |
missense |
probably benign |
|
|
R0373:Mcc
|
UTSW |
18 |
44,608,289 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0564:Mcc
|
UTSW |
18 |
44,601,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0604:Mcc
|
UTSW |
18 |
44,606,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0691:Mcc
|
UTSW |
18 |
44,578,927 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0965:Mcc
|
UTSW |
18 |
44,857,593 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1015:Mcc
|
UTSW |
18 |
44,857,736 (GRCm39) |
missense |
probably benign |
|
|
R1186:Mcc
|
UTSW |
18 |
44,892,470 (GRCm39) |
missense |
probably benign |
|
|
R1215:Mcc
|
UTSW |
18 |
44,601,561 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1878:Mcc
|
UTSW |
18 |
44,601,467 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1990:Mcc
|
UTSW |
18 |
44,624,382 (GRCm39) |
nonsense |
probably null |
|
|
R1991:Mcc
|
UTSW |
18 |
44,624,382 (GRCm39) |
nonsense |
probably null |
|
|
R1992:Mcc
|
UTSW |
18 |
44,624,382 (GRCm39) |
nonsense |
probably null |
|
|
R2186:Mcc
|
UTSW |
18 |
44,945,145 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2189:Mcc
|
UTSW |
18 |
44,667,297 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2258:Mcc
|
UTSW |
18 |
44,608,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2267:Mcc
|
UTSW |
18 |
44,652,608 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2310:Mcc
|
UTSW |
18 |
44,564,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2343:Mcc
|
UTSW |
18 |
44,592,864 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2377:Mcc
|
UTSW |
18 |
44,652,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3110:Mcc
|
UTSW |
18 |
44,582,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3112:Mcc
|
UTSW |
18 |
44,582,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4135:Mcc
|
UTSW |
18 |
44,857,707 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4404:Mcc
|
UTSW |
18 |
44,892,365 (GRCm39) |
missense |
probably benign |
|
|
R4600:Mcc
|
UTSW |
18 |
44,652,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4721:Mcc
|
UTSW |
18 |
44,652,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5858:Mcc
|
UTSW |
18 |
44,643,208 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5997:Mcc
|
UTSW |
18 |
44,582,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6482:Mcc
|
UTSW |
18 |
44,578,931 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6502:Mcc
|
UTSW |
18 |
44,601,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6502:Mcc
|
UTSW |
18 |
44,601,457 (GRCm39) |
nonsense |
probably null |
|
|
R6518:Mcc
|
UTSW |
18 |
44,794,878 (GRCm39) |
start gained |
probably benign |
|
|
R6796:Mcc
|
UTSW |
18 |
44,857,627 (GRCm39) |
missense |
probably benign |
|
|
R6846:Mcc
|
UTSW |
18 |
44,606,707 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6879:Mcc
|
UTSW |
18 |
44,945,179 (GRCm39) |
missense |
unknown |
|
|
R7147:Mcc
|
UTSW |
18 |
44,626,580 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7475:Mcc
|
UTSW |
18 |
44,609,303 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7515:Mcc
|
UTSW |
18 |
44,626,499 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7608:Mcc
|
UTSW |
18 |
44,624,294 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8092:Mcc
|
UTSW |
18 |
44,892,299 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8119:Mcc
|
UTSW |
18 |
44,601,500 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8162:Mcc
|
UTSW |
18 |
44,582,508 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8187:Mcc
|
UTSW |
18 |
44,667,327 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8716:Mcc
|
UTSW |
18 |
44,582,403 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8744:Mcc
|
UTSW |
18 |
44,857,639 (GRCm39) |
missense |
probably benign |
|
|
R9383:Mcc
|
UTSW |
18 |
44,575,985 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9517:Mcc
|
UTSW |
18 |
44,794,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9570:Mcc
|
UTSW |
18 |
44,578,925 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9590:Mcc
|
UTSW |
18 |
44,592,977 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
X0010:Mcc
|
UTSW |
18 |
44,563,024 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1177:Mcc
|
UTSW |
18 |
44,624,313 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGCTGTTGCAAGGACACTG -3'
(R):5'- TCTACTTGCGAGTGAGACAAGTG -3'
Sequencing Primer
(F):5'- CTGACAACCTGGGTTCGAAATCTG -3'
(R):5'- CTTGCGAGTGAGACAAGTGATATATC -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation